The strategies discussed above (summarized in Figure 3) have been utilized to interpret the transcriptional effects of enhancer variants associated with several traits and common diseases. The continued application of these and other emerging strategies will have important implications for disease and medicine. These studies should not only help to reveal the gene targets of noncoding risk variants, but also provide information on whether these risk variants increase or decrease expression of the target gene. This information will be essential for identifying appropriate therapeutic targets and determining whether inhibitors or activators of these targets would be most effective. Knowledge of gene targets may also reveal pathways that are commonly altered among affected individuals, which could also guide treatment strategies and rational drug design.
